Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.51394261A= , CM000667.2:g.51394261A= | GRCh38 |
| NC_000005.9:g.50690095A= , CM000667.1:g.50690095A= | GRCh37 |
| NC_000005.8:g.50725852A= | NCBI36 |
| NG_023040.1:g.16138A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002202.3:c.*651A= MANE Select | NP_002193.2:n.*651A= |
| ENST00000230658.12:c.*651A= MANE Select | ENSP00000230658.7:n.*651A= |
| NM_002202.2:c.*651A= | NP_002193.2:n.*651A= |
| ENST00000230658.11:c.*651A= | ENSP00000230658.7:n.*651A= |
| XM_011543380.1:c.*651A= | XP_011541682.1:n.*651A= |
| XM_011543380.2:c.*651A= | XP_011541682.1:n.*651A= |